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Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier Ltd, 2017)
© 2017 Elsevier B.V. Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and ...
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier, 2017)
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
"Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy
(Springer Verlag, 2009)
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...
Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset
(Academia Brasileira de Neurologia - ABNEURO, 1998-03-01)
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; ...
Temporomandibular joint involvement in a patient with centronuclear myopathy
(Mosby, Inc, 2000-07-01)
We describe here the temporomandibular joint and masticatory muscle abnormalities disclosed by computed tomography and magnetic resonance imaging in a 25-year-old man with centronuclear myopathy (a congenital myopathy) who ...
Study of the PTPLA gene in centronuclear myopathy
(Elsevier B.V., 2005-10-01)
Study of the PTPLA gene in centronuclear myopathy
(Elsevier B.V., 2005-10-01)
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation
(PERGAMON-ELSEVIER SCIENCE LTD, 2011-02)
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
(Pergamon-Elsevier Science Ltd, 2017)
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated ...